Elena Antelmi

Association of restless legs syndrome with nocturnal eating: a case-control study.

We investigated the prevalence of nocturnal eating (sleep‐related eating disorder—SRED or night‐eating syndrome—NES) in patients with restless legs syndrome (RLS). One hundred RLS patients living in Emilia‐Romagna (Northern Italy) and 100 matched controls randomly selected from the general population received two telephone interviews, and were investigated for socio‐demographic characteristics, general health status, and presence of nocturnaleating. Additionally, subjects underwent interviews for psychopathological traits [by means of the Eating Disorder Inventory‐2 (EDI‐2), the Maudsley Obsessive‐Compulsive Inventory (MOCI), the Beck Depression Inventory (BDI)], excessive daytime sleepiness (EDS), and subjective sleep quality. Compared with controls, RLS patients had more frequently pathological MOCI scores (24% versus 10%, P = 0.03), used significantly more drugs for concomitant diseases and had more nocturnal sleep impairment and EDS. SRED was more prevalent in RLS patients than controls (SRED: 33% versus 1%, P < 0.001). Medication use and pathological MOCI scores were more prevalent in RLS patients with SRED than among RLS patients without SRED. Use of dopaminergic or hypnotic drugs for RLS was not correlated with the presence of SRED. We demonstrate an association between RLS and SRED. Prospective studies are needed to establish the mechanisms underlying such association and whether it is causal.

Increased prevalence of nocturnal smoking in restless legs syndrome (RLS).

OBJECTIVE We investigated the prevalence of nocturnal smoking (NS) in patients with RLS. METHODS One hundred RLS patients living in Emilia-Romagna (Northern Italy) and 100 matched controls, randomly selected from the general population, underwent interviews for the presence of nocturnal smoking and for obsessive-compulsive traits, depression, excessive daytime sleepiness (EDS) and subjective sleep quality. RESULTS NS was more prevalent in RLS patients than controls (lifetime prevalence: 12% vs. 2%, P=0.012). Patients with NS had more frequently Sleep-Related Eating Disorders (SRED) than patients without NS (83.3% vs. 26.1%, P=0.0002). Pathological and borderline Maudsley Obsessive-Compulsive Inventory (MOCI) values as well as pathological values at the Beck Depression Inventory (BDI) increased from controls to RLS patients without NS to RLS patients with NS (P=0.005 and P=0.01, respectively). CONCLUSIONS We demonstrate an increased prevalence of NS in patients with RLS, in many cases associated with increased SRED. NS may be associated with psychopathological traits in RLS and may be relevant in the management of RLS patients.

Skin nerve phosphorylated α-synuclein deposits in idiopathic REM sleep behavior disorder

Objective: To test if phosphorylated α-synuclein (p-α-syn) deposits can be detected by means of skin biopsy in patients with idiopathic REM sleep behavior disorder (iRBD) as a potential early histopathologic marker of impending synucleinopathy. Methods: Proximal (cervical) and distal (legs) samples of skin biopsy were obtained from 12 patients with polysomnographically confirmed iRBD and 55 sex- and age-matched healthy controls (HC). P-α-syn deposits were assessed with a monoclonal antibody against p-α-syn at serine 129, disclosed by an immunofluorescence method. In addition, patients underwent an extensive workup in order to search for nonmotor symptoms and neuroimaging findings usually associated with impending neurodegeneration and to exclude subtle motor or cognitive signs. Results: P-α-syn deposits were detected in 9 (75%) out of 12 patients with iRBD and none of the HC. In iRBD, the sensitivity of the test was higher at the cervical site (67%) when compared to the leg site (58%). Conclusions: Our preliminary findings suggest that skin biopsy in patients with iRBD might be a safe and sensitive procedure to be further tested in order to detect p-α-syn deposits in the premotor stage of synucleinopathies. Classification of evidence: This study provides Class III evidence that p-α-syn skin deposits identify patients with iRBD.

The long-term outcome of orthostatic tremor

Objectives Orthostatic tremor is a rare condition characterised by high-frequency tremor that appears on standing. Although the essential clinical features of orthostatic tremor are well established, little is known about the natural progression of the disorder. We report the long-term outcome based on the largest multicentre cohort of patients with orthostatic tremor. Methods Clinical information of 68 patients with clinical and electrophysiological diagnosis of orthostatic tremor and a minimum follow-up of 5 years is presented. Results There was a clear female preponderance (76.5%) with a mean age of onset at 54 years. Median follow-up was 6 years (range 5–25). On diagnosis, 86.8% of patients presented with isolated orthostatic tremor and 13.2% had additional neurological features. At follow-up, seven patients who initially had isolated orthostatic tremor later developed further neurological signs. A total 79.4% of patients reported worsening of orthostatic tremor symptoms. These patients had significantly longer symptom duration than those without reported worsening (median 15.5 vs 10.5 years, respectively; p=0.005). There was no change in orthostatic tremor frequency over time. Structural imaging was largely unremarkable and dopaminergic neuroimaging (DaTSCAN) was normal in 18/19 cases. Pharmacological treatments were disappointing. Two patients were treated surgically and showed improvement. Conclusions Orthostatic tremor is a progressive disorder with increased disability although tremor frequency is unchanged over time. In most cases, orthostatic tremor represents an isolated syndrome. Drug treatments are unsatisfactory but surgery may hold promise.

Neurophysiological correlates of abnormal somatosensory temporal discrimination in dystonia

Somatosensory temporal discrimination threshold is often prolonged in patients with dystonia. Previous evidence suggested that this might be caused by impaired somatosensory processing in the time domain. Here, we tested if other markers of reduced inhibition in the somatosensory system might also contribute to abnormal somatosensory temporal discrimination in dystonia.

Nocturnal eating is part of the clinical spectrum of restless legs syndrome and an underestimated risk factor for increased body mass index.

OBJECTIVES We aimed to investigate the prevalence of night eating syndrome (NES) in a large cohort of patients with restless legs syndrome (RLS). METHODS Our cross-sectional study included 120 patients examined at the University of Bologna Centre for Sleep Disorders, Bologna, Italy, and met all four International RLS criteria for the diagnosis of RLS. Each patient underwent a semistructured telephone interview investigating demographic data and general health status, RLS features and severity, presence of excessive daytime sleepiness, and presence of NES. RESULTS The sample included 37 men and 83 women with a mean age of 63.8±11.5 years. There were 31% of patients who reported episodes of nocturnal eating (NE); among them, 17% fulfilled the new diagnostic criteria for NES. Comparing RLS patients with and without NE, there were no differences in RLS features. However, RLS patients with NE were older (67.2±11.6 vs. 62.4±11; P=.038), were in a higher body mass index (BMI) range (27.7±3.8 vs. 26.1±4.1 kg/m2; P=.023), were taking more drugs for concomitant diseases (89% vs. 72%; P=.031), were more likely to report insomnia (40% vs. 23%; P=.041), and were using more hypnotic agents (37.8% vs. 19.3%; P=.050) and dopaminergic drugs (65% vs. 46%; P=.041). When comparing those RLS patients with NES diagnostic criteria and those without NES, no differences emerged in demographic, clinical, and RLS features; however, NES patients were in a higher BMI range (28.3±4.1 vs. 26.2±3.9kg/m(2), P=.037), were more frequently smokers (43% vs 17%; P=.027), and were more frequently using hypnotic agents (30% vs. 24%; P=.025). Lastly, no differences were found when comparing patients with a NES diagnosis and those with NE not fitting the diagnostic criteria for NES, except for a higher use of benzodiazepine drugs (BDZ) in this latter subgroup (29% vs. zero; P=.014). CONCLUSIONS A nocturnal compulsion to eat seems to be an intrinsic part of the clinical spectrum of RLS manifestations and an odd risk factor for increases in BMI in RLS patients. However, it is still not clear if NE in RLS would fit in one of the two known categorized syndromes of NE (i.e., sleep-related eating disorder [SRED] or NES) or if it represents a different strictly RLS-related eating behavior.

Idiopathic central sleep apnoea syndrome treated with zolpidem

We report the case of a 47-year-old man with idiopathic central sleep apnoeas recurring during wake-sleep transitions at night or at diurnal naps. Symptoms associated with central apnoeas were sudden awakening with shortness of breath, sleep fragmentation and daytime tiredness. Following the failure of CPAP and BiPAP, we treated the patient with zolpidem which reduced central apnoea events, improved sleep and eliminated the patient’s nocturnal disturbing symptoms. Beneficial effects were still present after two years of treatment. Our case demonstrates that zolpidem may be beneficial in the long term treatment of idiopathic central sleep apnoea syndrome.

Peduncular hallucinosis: A polysomnographic and spect study of a patient and efficacy of serotonergic therapy

Peduncular hallucinosis (PH) consists of formed and coloured visual images, which the patient knows are unreal; it is often associated with lesions of the pons, midbrain and diencephalon. A 72-year-old man had noted the sudden onset of visual hallucinations one year before, specifying the time and body position in a 4-week, 24-h diary. Thereafter, he underwent video-polysomnography (VPSG), brain magnetic resonance imaging (MRI), angiography (MRA), proton spectroscopy ((1)H MRS), and single photon emission tomography (SPECT). Patients diaries and VPSG showed a strong clustering of hallucinatory experiences during the evening/night time while lying in supine position, similar to hypnagogic hallucination and sleep paralysis in supine position. Repeated episodes of REM sleep behaviour disorder (RBD) occurred during the night. MRI and MRA showed an elongated and dilated left internal carotid artery displacing the left subthalamus upwards, and (1)H MRS relatively decreased N-acetyl-aspartate in the left subthalamus. Brain SPECT during PH revealed hypoperfusion in the right temporal region and hyperperfusion in the left occipital and right opercular regions (the latter possibly related to the patients awareness of unreality). PH resolved with serotonergic (citalopram) therapy.

Impaired eye blink classical conditioning distinguishes dystonic patients with and without tremor

INTRODUCTION Tremor is frequently associated with dystonia, but its pathophysiology is still unclear. Dysfunctions of cerebellar circuits are known to play a role in the pathophysiology of action-induced tremors, and cerebellar impairment has frequently been associated to dystonia. However, a link between dystonic tremor and cerebellar abnormalities has not been demonstrated so far. METHODS Twenty-five patients with idiopathic isolated cervical dystonia, with and without tremor, were enrolled. We studied the excitability of inhibitory circuits in the brainstem by measuring the R2 blink reflex recovery cycle (BRC) and implicit learning mediated by the cerebellum by means of eyeblink classical conditioning (EBCC). Results were compared with those obtained in a group of age-matched healthy subjects (HS). RESULTS Statistical analysis did not disclose any significant clinical differences among dystonic patients with and without tremor. Patients with dystonia (regardless of the presence of tremor) showed decreased inhibition of R2 blink reflex by conditioning pulses compared with HS. Patients with dystonic tremor showed a decreased number of conditioned responses in the EBCC paradigm compared to HS and dystonic patients without tremor. CONCLUSION The present data show that cerebellar impairment segregates with the presence of tremor in patients with dystonia, suggesting that the cerebellum might have a role in the occurrence of dystonic tremor.

High frequency repetitive sensory stimulation improves temporal discrimination in healthy subjects.

OBJECTIVE High frequency electrical stimulation of an area of skin on a finger improves two-point spatial discrimination in the stimulated area, likely depending on plastic changes in the somatosensory cortex. However, it is unknown whether improvement also applies to temporal discrimination. METHODS Twelve young and ten elderly volunteers underwent the stimulation protocol onto the palmar skin of the right index finger. Somatosensory temporal discrimination threshold (STDT) was evaluated before and immediately after stimulation as well as 2.5h and 24h later. RESULTS There was a significant reduction in somatosensory temporal threshold only on the stimulated finger. The effect was reversible, with STDT returning to the baseline values within 24h, and was smaller in the elderly than in the young participants. CONCLUSIONS High frequency stimulation of the skin focally improves temporal discrimination in the area of stimulation. Given previous suggestions that the perceptual effects rely on plastic changes in the somatosensory cortex, our results are consistent with the idea that the timing of sensory stimuli is, at least partially, encoded in the primary somatosensory cortex. SIGNIFICANCE Such a protocol could potentially be used as a therapeutic intervention to ameliorate physiological decline in the elderly or in other disorders of sensorimotor integration.